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A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B; Members of the Brittle Bone Disorders Consortium; Rush ET, Nagamani SCS. Tam A, et al. Among authors: rush et. Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24. Clin Genet. 2018. PMID: 30152014 Free PMC article.
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; , Members of the Brittle Bone Disorders Consortium*,; Nagamani SCS. Jain M, et al. Genet Med. 2019 Feb;21(2):275-283. doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4. Genet Med. 2019. PMID: 29970925 Free PMC article.
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.
Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium. Retrouvey JM, et al. Eur J Med Genet. 2019 Dec;62(12):103606. doi: 10.1016/j.ejmg.2018.12.011. Epub 2018 Dec 26. Eur J Med Genet. 2019. PMID: 30593885 Free PMC article.
Mobility in osteogenesis imperfecta: a multicenter North American study.
Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF. Kruger KM, et al. Among authors: rush et. Genet Med. 2019 Oct;21(10):2311-2318. doi: 10.1038/s41436-019-0491-4. Epub 2019 Mar 28. Genet Med. 2019. PMID: 30918359 Free PMC article.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):2016. doi: 10.1038/s41436-021-01306-7. Genet Med. 2021. PMID: 34522029 Free article. No abstract available.
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